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Descriptor English: 22q11 Deletion Syndrome
Descriptor Spanish: Síndrome de Deleción 22q11
Descriptor síndrome de deleción 22q11
Scope note: Complejo sindrómico, con una constelación variable de fenotipos, debido a polimorfismos de deleción en el cromosoma 22q11. Comprende varios síndromes con anomalías mixtas como el SÍNDROME DE DIGEORGE, el SÍNDROME VELOCARDIOFACIAL y el SÍNDROME CONOTRUNCAL CON ANOMALÍA FACIAL. También se asocian con estos síndromes diversos trastornos del desarrollo y rasgos esquizoides. (BMC Med Genet. 2009 Feb 25;10:16). No todas las deleciones en 22q11 producen el síndrome de deleción 22q11.
Descriptor Portuguese: Síndrome da Deleção 22q11
Descriptor French: Syndrome de délétion 22q11
Tree number(s): C05.660.207.103
C14.240.400.021
C14.280.400.044
C15.604.451.249
C16.131.077.019
C16.131.240.400.021
C16.131.260.019
C16.131.482.249
C16.131.621.207.103
C16.320.180.019
C19.642.482.500
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D058165
Scope note: Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
DeCS ID: 53952
Unique ID: D058165
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2011/01/01
Date of Entry: 2010/06/25
Syndrome de délétion 22q11 - Preferred
Concept UI M0537456
Preferred term Syndrome de délétion 22q11



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